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by Conti, Francesca, MD, PhD and Lugo-Reyes, Saul Oswaldo, MD and Blancas Galicia, Lizbeth, MD and He, Jianxin, MD and Aksu, Güzide, MD and Borges de Oliveira, Edgar, PhD and Deswarte, Caroline, MSc and Hubeau, Marjorie, PhD and Karaca, Neslihan, MD and de Suremain, Maylis, AS and Guérin, Antoine, MSc and Baba, Laila Ait, PhD and Prando, Carolina, MD, PhD and Guerrero, Gloria G., PhD and Emiroglu, Melike, MD and Öz, Fatma Nur, MD and Yamazaki Nakashimada, Marco Antonio, MD and Gonzalez Serrano, Edith, MD and Espinosa, Sara, MD, PhD and Barlan, Isil, MD and Pérez, Nestor, MD, PhD and Regairaz, Lorena, MD and Guidos Morales, Héctor Eduardo, MD and Bezrodnik, Liliana, MD and Di Giovanni, Daniela, MD and Dbaibo, Ghassan, MD and Ailal, Fatima, MD and Galicchio, Miguel, MD and Oleastro, Matias, MD and Chemli, Jalel, MD and Danielian, Silvia, PhD and Perez, Laura, BSc and Ortega, Maria Claudia, MD and Soto Lavin, Susana, MD, PhD and Hertecant, Joseph, MD and Anal, Ozden, MD and Kechout, Nadia, MD and Al-Idrissi, Eman, MD and ElGhazali, Gehad, MD, PhD and Bondarenko, Anastasia, MD and Chernyshova, Liudmyla, MD and Ciznar, Peter, MD and Herbigneaux, Rose-Marie, MD and Diabate, Aminata, AS and Ndaga, Stéphanie, AS and Konte, Barik, AS and Czarna, Ambre, AS and Migaud, Mélanie, AS and Pedraza-Sánchez, Sigifredo, PhD and Zaidi, Mussaret Bano, MD, Msc and Vogt, Guillaume, PhD and Blanche, Stéphane, MD and Benmustapha, Imen, MD and Mansouri, Davood, MD and Abel, Laurent, MD, PhD and Boisson-Dupuis, Stéphanie, PhD and Mahlaoui, Nizar, MD, MSc, MPH and Bousfiha, Ahmed Aziz, MD and Picard, Capucine, MD, PhD and Barbouche, Ridha, MD, PhD and Al-Muhsen, Saleh, MD and Espinosa-Rosales, Francisco J., MD and Kütükçüler, Necil, MD and Condino-Neto, Antonio, MD, PhD and Casanova, Jean-Laurent, MD, PhD and Bustamante, Jacinta, MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 1, pp. 241 - 248.e3
Background Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by inborn errors of the phagocyte nicotinamide adenine dinucleotide... 
Allergy and Immunology | primary immunodeficiency | Mycobacteria | chronic granulomatous disease | BCG | tuberculosis | SUSCEPTIBILITY | VACCINATION | 1ST REPORT | CLINICAL-FEATURES | KINDREDS | IMMUNOLOGY | DEFICIENCY | ALLERGY | INFECTION | 2 CHILDREN | MUTATIONS | Granulomatous Disease, Chronic - mortality | Mycoses - epidemiology | Mycobacterium Infections - diagnosis | Bacterial Infections - etiology | Humans | Tuberculosis - etiology | Child, Preschool | Infant | Male | Granulomatous Disease, Chronic - complications | Tuberculosis - diagnosis | Granulomatous Disease, Chronic - epidemiology | Female | Retrospective Studies | Child | Mycobacterium Infections - epidemiology | Mycobacterium Infections - etiology | Mycobacterium Infections - mortality | Granulomatous Disease, Chronic - therapy | Patient Outcome Assessment | Bacterial Infections - epidemiology | Mycoses - diagnosis | Bacterial Infections - diagnosis | Mycoses - mortality | Mycoses - etiology | BCG Vaccine - administration & dosage | Bacterial Infections - mortality | Care and treatment | Chronic granulomatous disease | Bacterial infections | Analysis | Cytochrome | Pathogens | Immunization | Tuberculosis | Infectious diseases | Laboratories | Infections | Mutation | Patients | Mycoses | Mycobacterium Infections | Life Sciences | Granulomatous Disease, Chronic | BCG Vaccine | Bacterial Infections
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 140, Issue 1, pp. 232 - 241
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2016, Volume 113, Issue 51, pp. E8277 - E8285
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 05/2019, Volume 143, Issue 5, pp. 1952 - 1956.e6
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2017, Volume 49, Issue 8, pp. 1192 - 1201
Journal Article
Journal of Experimental Medicine, ISSN 0022-1007, 08/2011, Volume 208, Issue 18, pp. 1635 - 1648
Chronic mucocutaneous candidiasis disease (CMCD) may be caused by autosomal dominant (AD) IL-17F deficiency or autosomal recessive (AR) IL-17RA deficiency.... 
HYPER-IGE SYNDROME | MEDICINE, RESEARCH & EXPERIMENTAL | SEQUENCING-BASED DISCOVERY | IFN-GAMMA | DISEASE | TH17-ASSOCIATED CYTOKINES | IL-27 | CD4(+) T-CELLS | IMMUNOLOGY | DEFICIENCY | TH17 CELLS | INBORN-ERRORS
Journal Article
Blood, ISSN 0006-4971, 2016, Volume 127, Issue 25, pp. 3154 - 3164
Journal Article
by de Beaucouey, Ludovic and Samarina, Arina and Bustamante, Jacinta and Cobat, Aurelie and Boisson-Dupuis, Stephanie and Feinberg, Jacqueline and Al-Muhsen, Saleh and Janniere, Lucile and Rose, Yoann and de Suremain, Maylis and Kong, Xiao-Fei and Filipe-Santos, Orchidee and Chapgier, Ariane and Picard, Capucine and Fischer, Alain and Dogu, Figen and Ikinciogullari, Aydan and Tanir, Gonul and Al-Hajjar, Sami and Al-Jumaah, Suliman and Frayha, Husn H and Alsum, Zobaida and Al-Ajaji, Sulaiman and Alangari, Abdullah and Al-Ghonaium, Abdulaziz and Adimi, Parisa and Mansouri, Davood and Ben-Mustapha, Imen and Yancoski, Judith and Garty, Ben-Zion and Roiguez-Gallego, Carlos and Caragol, Isabel and Kutukculer, Necil and Kumararatne, Dinakantha S and Patel, Smita and Doffinger, Rainer and Exley, Anew and Jeppsson, Olle and Reichenbach, Janine and Nadal, David and Boyko, Yaryna and Pietrucha, Barbara and Anderson, Suzanne and Levin, Michael and Schandene, Liliane and Schepers, Kinda and Efira, Ane and Mascart, Francoise and Matsuoka, Masao and Sakai, Tatsunori and Siegrist, Claire-Anne and Frecerova, Klara and Blueetters-Sawatzki, Renate and Bernhoeft, Jutta and Freihorst, Joachim and Baumann, Ulrich and Richter, Darko and Haerynck, Filomeen and De Baets, Frans and Novelli, Vas and Lammas, David and Vermylen, Christiane and Tuerlinckx, David and Nieuwhof, Chris and Pac, Malgorzata and Haas, Walther H and Mueller-Fleckenstein, Ingrid and Fleckenstein, Bernhard and Levy, Jacob and Raj, Revathi and Cohen, Aileen Cleary and Lewis, David B and Holland, Steven M and Yang, Kuender D and Wang, Xiaochuan and Wang, Xiaohong and Jiang, Liping and Yang, Xiqiang and Zhu, Chaomin and Xie, Yuanyuan and Lee, Pamela Pui Wah and Chan, Koon Wing and Chen, Tong-Xin and Castro, Gabriela and Natera, Ivelisse and Codoceo, Ana and King, Alejana and Bezrodnik, Liliana and Di Giovani, Daniela and Isabel Gaillard, Maria and de Moraes-Vasconcelos, Dewton and Grumach, Anete Sevciovic and da Silva Duarte, Alberto Jose and Aldana, Ruth and Javier Espinosa-Rosales, Francisco and Bejaoui, Mohammed and Bousfiha, Ahmed Aziz and El Baghdadi, Jamila and Ozbek, Namik and Aksu, Guzide and ...
Medicine, ISSN 0025-7974, 11/2010, Volume 89, Issue 6, pp. 381 - 402
Interleukin-12 receptor beta 1 (IL-12R beta 1) deficiency is the most common form of Mendelian susceptibility to mycobacterial disease (MSMD). We undertook an... 
MEDICINE, GENERAL & INTERNAL | INTERFERON-GAMMA RECEPTOR | CALMETTE-GUERIN INFECTION | RECEPTOR BETA-1 DEFICIENCY | IFN-GAMMA | HOST-DEFENSE | GENETIC-HETEROGENEITY | MYCOBACTERIUM-AVIUM INFECTION | CLINICAL-FEATURES | INTERLEUKIN-12/23 MONOCLONAL-ANTIBODY | T-HELPER-CELLS | Life Sciences
Journal Article
by De Beaucoudrey, Ludovic and Samarina, Arina and Bustamante, Jacinta and Cobat, Aurélie and Boisson-Dupuis, Stéphanie and Feinberg, Jacqueline and Al-Muhsen, Saleh and Jannière, Lucile and Rose, Yoann and De Suremain, Maylis and Kong, Xiao-Fei and Filipe-Santos, Orchidée and Chapgier, Ariane and Picard, Capucine and Fischer, Alain and Dogu, Figen and Ikinciogullari, Aydan and Tanir, Gonul and Al-Hajjar, Sami and Al-Jumaah, Suliman and Frayha, Husn H and Alsum, Zobaida and Al-Ajaji, Sulaiman and Alangari, Abdullah and Al-Ghonaium, Abdulaziz and Adimi, Parisa and Mansouri, Davood and Ben-Mustapha, Imen and Yancoski, Judith and Garty, Ben-Zion and Rodriguez-Gallego, Carlos and Caragol, Isabel and Kutukculer, Necil and Kumararatne, Dinakantha S and Patel, Smita and Doffinger, Rainer and Exley, Andrew and Jeppsson, Olle and Reichenbach, Janine and Nadal, David and Boyko, Yaryna and Pietrucha, Barbara and Anderson, Suzanne and Levin, Michael and Schandené, Liliane and Schepers, Kinda and Efira, André and Mascart, Françoise and Matsuoka, Masao and Sakai, Tatsunori and Siegrist, Claire-Anne and Frecerova, Klara and Blüetters-Sawatzki, Renate and Bernhöft, Jutta and Freihorst, Joachim and Baumann, Ulrich and Richter, Darko and Haerynck, Filomeen and De Baets, Frans and Novelli, Vas and Lammas, David and Vermylen, Christiane and Tuerlinckx, David and Nieuwhof, Chris and Pac, Malgorzata and Haas, Walther H and Müller-Fleckenstein, Ingrid and Fleckenstein, Bernhard and Levy, Jacob and Raj, Revathi and Cohen, Aileen Cleary and Lewis, David B and Holland, Steven M and Yang, Kuender D and Wang, Xiaochuan and Wang, Xiaohong and Jiang, Liping and Yang, Xiqiang and Zhu, Chaomin and Xie, Yuanyuan and Lee, Pamela Pui Wah and Chan, Koon Wing and Chen, Tong-Xin and Castro, Gabriela and Natera, Ivelisse and Codoceo, Ana and King, Alejandra and Bezrodnik, Liliana and Di Giovani, Daniela and Gaillard, Maria Isabel and De Moraes-Vasconcelos, Dewton and Grumach, Anete Sevciovic and Da Silva Duarte, Alberto Jose and Aldana, Ruth and Espinosa-Rosales, Francisco Javier and Bejaoui, Mohammed and Bousfiha, Ahmed Aziz and Baghdadi, Jamila El and Özbek, Namik and Aksu, Guzide and ...
Medicine, ISSN 0025-7974, 11/2010, Volume 89, Issue 6, pp. 381 - 402
Journal Article